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RNA probe capable of detecting multiple neonatal hereditary diseases and gene screening kit

An RNA probe, neonatal technology, applied in DNA/RNA fragments, recombinant DNA technology, microbial determination/examination, etc., can solve the problems of small hereditary metabolic disease screening, general low throughput, etc.

Inactive Publication Date: 2015-06-03
绍兴锐创生物科技有限公司
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  • Summary
  • Abstract
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  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

The use of these diagnostic methods in IMD screening has limitations: (1) The general throughput is low, and generally only one type can be detected at a time, which cannot meet the increasing number of detectable diseases in IMD, and requires accurate diagnosis of inherited metabolic diseases. Pre-judgment; (2) The detection methods of different IMDs are different, and the samples are diverse. For example, some diseases detect protein levels, while others detect gene levels. Some diseases require urine samples, while others require blood samples
Therefore, it is not suitable for large-scale screening of inherited metabolic diseases, and there is an urgent need for a high-throughput detection technology for various diseases of IMD.

Method used

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  • RNA probe capable of detecting multiple neonatal hereditary diseases and gene screening kit
  • RNA probe capable of detecting multiple neonatal hereditary diseases and gene screening kit
  • RNA probe capable of detecting multiple neonatal hereditary diseases and gene screening kit

Examples

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example 2

[0097] With reference to the method of example 1, for a certain broad bean disease and healthy people, high-throughput sequencing is used to capture the present invention, and the following results are obtained:

[0098] 1. The high-throughput sequencing results of G6PD deficiency patients are:

[0099]

[0100] The c.678C>G mutation site of the G6PD gene was verified by the gold standard Sanger method, and it was found that it was completely consistent with the mutation type detected by the present invention, such as Figure 5 shown:

[0101] Figure 5 is the Sanger sequencing result of the G6PD gene. The upper picture is the reverse sequence of a normal person (wild type), the lower picture is the reverse sequencing result of the patient sample, and the arrow is the homozygous mutation of c.678C>G.

[0102] No known or suspected pathogenic mutations were found in this patient within the scope of product testing. Combining the incidence of the disease, the frequency of...

example 3

[0106] With reference to the method of example 1, to the newborn of a certain Gitelman syndrome patient and the asymptomatic healthy person in the family, the high-throughput sequencing after the capture of the present invention is used to judge whether the son of the patient suffers from Gitelman syndrome, and obtains the following results:

[0107] 1. The high-throughput sequencing results of neonates of patients with Gitelman syndrome are:

[0108]

[0109] The C.176_179delACAAA deletion mutation site of the SLC12A3 gene was verified by the gold standard Sanger method, and it was found that it was completely consistent with the mutation type detected by the present invention. Subsequent doublets (frameshifts begin to occur at the arrows), as in Image 6 shown.

[0110] Image 6 Sanger sequencing results for the SLC12A3 gene. The upper picture is the normal human sequence (wild type), the lower picture is the sequencing result of the patient sample, the arrow is the st...

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Abstract

The invention provides a RNA probe capable of simultaneously detecting multiple neonatal hereditary diseases and a qualitative detection method in vitro of multiple neonatal genetic metabolic diseases, and the detection method provided by the invention is used for reducing the detection cost. Specifically, the invention discloses a RNA probe capable of simultaneously detecting multiple neonatal hereditary diseases, and the design method of the RNA probe comprises the following steps: 1) obtaining exon regions of genes corresponding to the neonatal genetic metabolic diseases; 2) regulating an oligonucleotide design principle. 1760 oligonucleotide sequences of the RNA probe provided by the invention are specifically as shown in table 1. The invention further provides a kit containing the RNA probe, and the kit can be used for simultaneously detecting multiple neonatal hereditary diseases.

Description

technical field [0001] The invention relates to a gene detection method for neonatal hereditary metabolic disease. Background technique [0002] Today, the tenth anniversary of the completion of the Human Genome Project, hundreds of genetic diseases can be diagnosed by gene sequencing technology, so as to achieve preventive intervention and individualized treatment, reduce the mental trauma and economic pressure of patients and their families, and prolong the survival time of patients. . Revolutionary changes brought by genetic diagnosis to clinical medicine: cancer risk prediction and individualized medication guidance for cancer patients; genetic screening of in vitro fertilized embryos and non-invasive prenatal screening techniques; screening of neonatal and adult genetic diseases and their carriers Wait. [0003] According to the 2011 "China Maternal and Child Health Development Report" statistics, in recent years, the incidence of birth defects in my country's newborn...

Claims

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Application Information

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IPC IPC(8): C12Q1/68C12N15/11
Inventor 洪旭涛余文菁谭海芹
Owner 绍兴锐创生物科技有限公司
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